| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28695134dup | CA299109 | CHEK2 | c.*103dup (n.*103dup) c.1167dup (p.Glu390ArgfsTer?) c.1368dup (p.Glu457ArgfsTer?) c.705dup (p.Glu236ArgfsTer?) c.708dup (p.Glu237ArgfsTer?) n.920dup c.1281dup (p.Glu428ArgfsTer?) c.1497dup (p.Glu500ArgfsTer?) c.1095dup (p.Glu366ArgfsTer?) c.*858dup (n.*858dup) c.1277dup (n.1277dup) c.1306dup (n.1306dup) c.566dup c.1258dup (n.1258dup) c.263+4704dup c.888dup (p.Glu297ArgfsTer?) c.825dup (p.Glu276ArgfsTer?) c.1527dup (p.Glu510ArgfsTer?) c.1440dup (p.Glu481ArgfsTer?) c.1296dup (p.Glu433ArgfsTer?) c.1197dup (p.Glu400ArgfsTer?) n.1527dup c.921dup (p.Glu308ArgfsTer?) c.1491dup (p.Glu498ArgfsTer?) c.1398dup (p.Glu467ArgfsTer?) c.1311dup (p.Glu438ArgfsTer?) n.1538dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28695134T= | CA2400237930 | CHEK2 | c.*103A= (n.*103A=) c.1167A= (p.Ser389=) c.1368A= (p.Ser456=) c.705A= (p.Ser235=) c.708A= (p.Ser236=) n.920A= c.1281A= (p.Ser427=) c.1497A= (p.Ser499=) c.1095A= (p.Ser365=) c.*858A= (n.*858A=) c.1277A= (n.1277A=) c.1306A= (n.1306A=) c.566A= c.1258A= (n.1258A=) c.263+4704A= c.888A= (p.Ser296=) c.825A= (p.Ser275=) c.1527A= (p.Ser509=) c.1440A= (p.Ser480=) c.1296A= (p.Ser432=) c.1197A= (p.Ser399=) n.1527A= c.921A= (p.Ser307=) c.1491A= (p.Ser497=) c.1398A= (p.Ser466=) c.1311A= (p.Ser437=) n.1538A= | dbSNP dbSNP dbSNP |